Short stature, Brussels type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Mievis - Verellen-Dumoulin syndrome |
| Number of Symptoms | 12 |
| OrphanetNr: | 2867 |
| OMIM Id: |
601350
|
| ICD-10: |
Q87.1 |
| UMLs: |
C1832439 |
| MeSH: |
C537121 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with disorganized development of skeletal components
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000085) | Horseshoe kidney | 39 / 7739 | ||||
|
|
(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
|
|
(HPO:0000325) | Triangular face | 91 / 7739 | ||||
|
|
(HPO:0000308) | Microretrognathia | 78 / 7739 | ||||
|
|
(HPO:0002663) | Delayed epiphyseal ossification | 21 / 7739 | ||||
|
|
(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
|
(OMIM) | Narrow thoracic cage | 2 / 7739 | ||||
|
|
(OMIM) | Slender trunk | 1 / 7739 | ||||
|
|
(OMIM) | Unusual metaphyses | 1 / 7739 | ||||
|
|
(OMIM) | Growth plates thick with dense islets of calcified cartilage | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Mievis et al. (1996) described a possibly distinct syndrome in 2 brothers born of nonconsanguineous healthy parents. The older brother exhibited short stature, slender trunk with a low chest circumference, relatively large head, triangular face, and retromicrognathia. At ... |